Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family

por Syx, Delfien, Symoens, Sofie, Steyaert, Wouter, De Paepe, Anne, Coucke, Paul J., Malfait, Fransiska
Publicado en Dis Markers (2015)

Perturbation of specific pro-mineralizing signalling pathways in human and murine pseudoxanthoma elasticum

por Hosen, Mohammad J, Coucke, Paul J, Le Saux, Olivier, De Paepe, Anne, Vanakker, Olivier M
Publicado 2014

Accurate quantification of homologous recombination in zebrafish: brca2 deficiency as a paradigm

por Vierstraete, Jeroen, Willaert, Andy, Vermassen, Petra, Coucke, Paul J., Vral, Anne, Claes, Kathleen B. M.
Publicado en Sci Rep (2017)

Homozygous Mutations in IHH Cause Acrocapitofemoral Dysplasia, an Autosomal Recessive Disorder with Cone-Shaped Epiphyses in Hands and Hips

por Hellemans, Jan, Coucke, Paul J., Giedion, Andres, Paepe, Anne De, Kramer, Peter, Beemer, Frits, Mortier, Geert R.
Publicado 2003

CRISPR/Cas9-mediated homology-directed repair by ssODNs in zebrafish induces complex mutational patterns resulting from genomic integration of repair-template fragments

por Boel, Annekatrien, De Saffel, Hanna, Steyaert, Wouter, Callewaert, Bert, De Paepe, Anne, Coucke, Paul J., Willaert, Andy
Publicado en Dis Model Mech (2018)

Illumina sequencing of 15 deafness genes using fragmented amplicons

por Van Nieuwerburgh, Filip, De Keulenaer, Sarah, De Schrijver, Joachim, Vandesompele, Jo, Van Criekinge, Wim, Coucke, Paul J, Deforce, Dieter
Publicado en BMC Res Notes (2014)

Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene

por Mehar, Virendra, Yadav, Dinesh, Kumar, Ravindra, Yadav, Summi, Singh, Kuldeep, Callewaert, Bert, Pathan, Shahnawaz, De Paepe, Anne, Coucke, Paul J.
Publicado en J Pediatr Genet (2014)

Zebrafish: A Resourceful Vertebrate Model to Investigate Skeletal Disorders

por Tonelli, Francesca, Bek, Jan Willem, Besio, Roberta, De Clercq, Adelbert, Leoni, Laura, Salmon, Phil, Coucke, Paul J., Willaert, Andy, Forlino, Antonella
Publicado en Front Endocrinol (Lausanne) (2020)

Efficiency of Exome Sequencing for the Molecular Diagnosis of Pseudoxanthoma Elasticum

por Hosen, Mohammad J, Van Nieuwerburgh, Filip, Steyaert, Wouter, Deforce, Dieter, Martin, Ludovic, Leftheriotis, Georges, De Paepe, Anne, Coucke, Paul J, Vanakker, Olivier M
Publicado en J Invest Dermatol (2015)

Recurrent Mutation in the First Zinc Finger of the Orphan Nuclear Receptor NR2E3 Causes Autosomal Dominant Retinitis Pigmentosa

por Coppieters, Frauke , Leroy, Bart P. , Beysen, Diane , Hellemans, Jan , De Bosscher, Karolien , Haegeman, Guy , Robberecht, Kirsten , Wuyts, Wim , Coucke, Paul J. , De Baere, Elfride 
Publicado 2007

Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans

por Symoens, Sofie, Malfait, Fransiska, D’hondt, Sanne, Callewaert, Bert, Dheedene, Annelies, Steyaert, Wouter, Bächinger, Hans Peter, De Paepe, Anne, Kayserili, Hulya, Coucke, Paul J
Publicado 2013

Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families

por Essawi, Osama, Symoens, Sofie, Fannana, Maha, Darwish, Mohammad, Farraj, Mohammad, Willaert, Andy, Essawi, Tamer, Callewaert, Bert, De Paepe, Anne, Malfait, Fransiska, Coucke, Paul J.
Publicado en Mol Genet Genomic Med (2017)

Expressed Repeat Elements Improve RT-qPCR Normalization across a Wide Range of Zebrafish Gene Expression Studies

por Vanhauwaert, Suzanne, Van Peer, Gert, Rihani, Ali, Janssens, Els, Rondou, Pieter, Lefever, Steve, De Paepe, Anne, Coucke, Paul J., Speleman, Frank, Vandesompele, Jo, Willaert, Andy
Publicado 2014

Decreased Nuclear Ascorbate Accumulation Accompanied with Altered Genomic Methylation Pattern in Fibroblasts from Arterial Tortuosity Syndrome Patients

por Németh, Csilla E., Nemoda, Zsófia, Lőw, Péter, Szabó, Pál, Horváth, Erzsébet Z., Willaert, Andy, Boel, Annekatrien, Callewaert, Bert L., Coucke, Paul J., Colombi, Marina, Bánhegyi, Gábor, Margittai, Éva
Publicado en Oxid Med Cell Longev (2019)

GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling

por Willaert, Andy, Khatri, Sandeep, Callewaert, Bert L., Coucke, Paul J., Crosby, Seth D., Lee, Joseph G. H., Davis, Elaine C., Shiva, Sruti, Tsang, Michael, De Paepe, Anne, Urban, Zsolt
Publicado 2012

A Reassessment of Copy Number Variations in Congenital Heart Defects: Picturing the Whole Genome

por Meerschaut, Ilse, Vergult, Sarah, Dheedene, Annelies, Menten, Björn, De Groote, Katya, De Wilde, Hans, Muiño Mosquera, Laura, Panzer, Joseph, Vandekerckhove, Kristof, Coucke, Paul J., De Wolf, Daniël, Callewaert, Bert
Publicado en Genes (Basel) (2021)

Altered cytoskeletal organization characterized lethal but not surviving Brtl(+/−) mice: insight on phenotypic variability in osteogenesis imperfecta

por Bianchi, Laura, Gagliardi, Assunta, Maruelli, Silvia, Besio, Roberta, Landi, Claudia, Gioia, Roberta, Kozloff, Kenneth M., Khoury, Basma M., Coucke, Paul J., Symoens, Sofie, Marini, Joan C., Rossi, Antonio, Bini, Luca, Forlino, Antonella
Publicado en Hum Mol Genet (2015)

b3galt6 Knock-Out Zebrafish Recapitulate β3GalT6-Deficiency Disorders in Human and Reveal a Trisaccharide Proteoglycan Linkage Region

por Delbaere, Sarah, De Clercq, Adelbert, Mizumoto, Shuji, Noborn, Fredrik, Bek, Jan Willem, Alluyn, Lien, Gistelinck, Charlotte, Syx, Delfien, Salmon, Phil L., Coucke, Paul J., Larson, Göran, Yamada, Shuhei, Willaert, Andy, Malfait, Fransiska
Publicado en Front Cell Dev Biol (2020)

New insights into the pathogenesis of autosomal dominant cutis laxa with report of five ELN mutations

por Callewaert, Bert, Renard, Marjolijn, Hucthagowder, Vishwanathan, Albrecht, Beate, Hausser, Ingrid, Blair, Edward, Dias, Cristina, Albino, Alice, Wachi, Hiroshi, Sato, Fumiaki, Mecham, Robert P., Loeys, Bart, Coucke, Paul J., De Paepe, Anne, Urban, Zsolt
Publicado 2011

Pathogenic variants in the ABCC6 gene are associated with an increased risk for ischemic stroke

por De Vilder, Eva Y.G., Cardoen, Stefanie, Hosen, Mohammad J., Le Saux, Olivier, De Zaeytijd, Julie, Leroy, Bart P., De Reuck, Jacques, Coucke, Paul J., De Paepe, Anne, Hemelsoet, Dimitri, Vanakker, Olivier M.
Publicado en Brain Pathol (2018)